台州市新生儿遗传性耳聋流行病学调查

目的 调查台州市新生儿遗传性耳聋流行病学并分析影响因素。方法 选取台州市2018年6月至2019年6月行新生儿遗传性耳聋筛查的465例新生儿作为研究对象，采用听力筛选、基因筛选方法筛选遗传性耳聋新生儿。收集所有复筛未通过新生儿及遗传性耳聋新生儿一般资料，分析新生儿遗传性耳聋发生单因素、遗传性耳聋基因突变情况以及新生儿遗传性耳聋发生多因素Logistic回归分析。结果 新生儿遗传性耳聋的发生与耳别、早产、外耳畸形、新生儿窒息、新生儿肺炎、高胆红素血症、家族耳聋史、遗传性耳聋基因突变相关，差异均有统计学意义（P<0.05）。复筛未通过的新生儿中89例携带遗传性耳聋基因，其中64例遗传性耳聋新生儿遗传性耳聋基因发生突变，以GJB2、SLC26A4基因突变为主。新生儿遗传性耳聋多因素Logistic回归分析数据显示，耳别、早产、外耳畸形、新生儿窒息、新生儿肺炎、高胆红素血症、家族耳聋史、遗传性耳聋基因突变与新生儿遗传性耳聋相关，其中家族耳聋史、遗传性耳聋基因突变为新生儿遗传性耳聋发生的主要影响因素，差异有统计学意义（P<0.05）。结论 新生儿遗传性耳聋的发生与家族耳聋史、遗传性耳聋基因突变相关，其中以GJB2、SLC26A4基因突变为主。

Epidemiological survey of hereditary deafness in newborns in Taizhou

Objective To investigate the epidemiology of neonatal hereditary deafness in Taizhou and analyze the influencing factors. Methods A total of 465 newborns from June 2018 to June 2019 in Taizhou city were selected as the research objects, and the methods of hearing screening and gene screening were used to screen the newborns with hereditary deafness. Collected the general data of all the newborns who failed to pass the rescreening and hereditary deafness, analyzed the single factor, genetic deafness gene mutation and multiple factor Logistic regression analysis of hereditary deafness. Results The incidence of hereditary deafness in neonates was correlated with ear type, premature delivery, external ear malformation, neonatal asphyxia, neonatal pneumonia, hyperbilirubinemia, family history of deafness, genetic deafness gene mutation, with statistical difference (P<0.05). A total of 89 of the newborns failed to pass the rescreening carried genetic deafness gene, 64 of them had genetic deafness gene mutations, among which GJB2 and SLC26A4 gene mutations were the main ones. The results of Logistic regression analysis showed that ear type, premature delivery, external ear malformation, neonatal asphyxia, neonatal pneumonia, hyperbilirubinemia, family deafness history, genetic deafness gene mutation were related to neonatal hereditary deafness, and family deafness history and genetic deafness gene mutation were the main influencing factors of neonatal hereditary deafness, the difference were statistically significant (P<0.05). Conclusion The occurrence of hereditary deafness in newborn is related to family deafness history and genetic deafness gene mutation, among which GJB2 and SLC26A4 gene mutation are the main ones.